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Find out how researchers identify genetic diseases and determine possible treatments. short film, genes as medicine click and learn, central dogma scientists at work, the search for a mutated gene central dogma card activity animation, CF mechanism and treatment click and learn. CRISPR-Cas9

Within a year, Stein's team had designed a clinical trial protocol that turned standard research practices around 180 degrees, launching what it now calls the Signature Clinical Trial Program. Instead of a patient traveling to one of several research sites, Novartis would send the investigational drugs to his or her local oncologist's office. Instead of testing hundreds or thousands of genetically unscreened patients, the company would accept only patients who had the genetic markers the drugs were supposed to target. Instead of waiting months, patients could access the treatments in two or three weeks. Instead of running a large-scale trial to investigate one or two questions, clinicians could conduct smaller, rapid proof-of-concept studies to quickly rule out the tumor types that don't respond to a study agent and identify other tumor types that are potentially treatable with the drug and worthy of further study.

Over a million people in the United States have some form of Inflammatory Bowel Disease or IBD. It can be caused by intestinal bacteria, environment or genetics. One thing is for sure, the lining of the intestines don't work correctly because the cells have been disturbed by one of these things. A common finding in Crohn's and IBD is that a molecule called TNF is elevated, and starts the inflammation process. Researchers still don't know what signals the TNF to go up, but maybe they can turn it off with another molecule.

More than 1,600 people worldwide have been infected with Middle East Respiratory Syndrome, or MERS, and complications from it have resulted in nearly 600 deaths. But in the three years since scientists identified the disease, they haven't been able to discover a way to treat or prevent infection. Now a team of international researchers has used genetically modified cows to create antibodies that combat the disease, which could mean that a vaccine might soon be possible. The research was published today in Science Translational Medicine.

A single genetic mutation causes resistance to DDT and pyrethroids (an insecticide class used in mosquito nets), new research concludes. With the continuing rise of resistance, the research is key as scientists say that this knowledge could help improve malaria control strategies. The researchers used a wide range of methods to narrow down how the resistance works, finding a single mutation in the GSTe2 gene, which makes insects break down DDT so it's no longer toxic. They have also shown that this gene makes insects resistant to pyrethroids raising the concern that GSTe2 gene could protect mosquitoes against the major insecticides used in public health.

The Aedes aegypti mosquito is the major vector for transmission of numerous viral diseases, including yellow fever, dengue, and now, Zika. Interestingly, different subspecies of A. aegypti are known to exist in close proximity but with considerable genetic divergence between them. One major difference between a "forest" form and a "domestic" form is a strong preference in the latter subspecies for human over non-human blood biting. This difference was explored with genetic and neurophysiological approaches by a research group at Rockefeller University and published in a 2014 paper in Nature. This flipped case study uses parts of the Nature paper to focus on elements of the scientific method as well as evolutionary questions raised by the difference in biting preference between the two subspecies. Students prepare for class by watching a video that provides background information about the published study that forms the basis for the case. In class students then work in groups to develop a hypothesis, predictions and proposed experiments to test the idea of different biting preferences.

Parkinson's is a result of the loss of cells in various parts of the brain, including one portion that produces the neurotransmitter dopamine. Dopamine is essential for being able to move in a coordinated way, so the loss of dopamine causes the tremors often associated with the condition. While the exact cause of Parkinson's is unknown, genetics and environment are contributing factors. Most cases occur in patients with no family history of Parkinson's disease, but there are 13 gene mutations that have been linked to either causing the disease or increasing one's risk of developing it. Certainly not everyone who carries these gene mutations develops Parkinson's, but identifying these genetic indicators is the beginning of developing more precise treatments.

Researchers led by Terra D. Barnes of Washington University discovered that their genetically-engineered mice stutter due to DNA defects in a humdrum "housekeeping" gene. This gene codes for a protein that simply places a "routing tag" on certain enzymes that shred cellular trash. The tag ensures that the shredding enzymes end up in chambers called lysosomes, basically the cell's garbage disposal. It's a mundane cellular activity, yet mutations in the same process in humans have also been linked to stuttering-a bizarrely specific condition for such a general gene. And, so far, scientists have no idea why the two are linked.

Although genetic factors contribute to congenital heart disease, many children born with heart defects have healthy parents and siblings, suggesting that new mutations that arise spontaneously -- known as de novo mutations -- might contribute to the disease. New research shows that about 10 percent of these defects are caused by genetic mutations that are absent in the parents of affected children.

[ February 17, 2008 ] People who lack a certain large segment of DNA have a previously unrecognized syndrome characterized by mental retardation, seizures, and slight physical abnormalities, according to a genetic analysis conducted by HHMI investigator Evan E. Eichler at the University of Washington School of Medicine and a team of international collaborators. The deleted DNA segment is responsible for just a small percentage of cases of mental retardation, but "when you think about how common mental retardation is," Eichler says, "this deletion has a significant impact on human health."

Why does a snake have 25 or more rows of ribs, whereas a mouse has only 13? The answer, according to a new study, may lie in "junk DNA," large chunks of an animal's genome that were once thought to be useless. The findings could help explain how dramatic changes in body shape have occurred over evolutionary history. Scientists began discovering junk DNA sequences in the 1960s. These stretches of the genome-also known as noncoding DNA-contain the same genetic alphabet found in genes, but they don't code for the proteins that make us who we are. As a result, many researchers long believed this mysterious genetic material was simply DNA debris accumulated over the course of evolution. But over the past couple decades, geneticists have discovered that this so-called junk is anything but. It has important functions, such as switching genes on and off and setting the timing for changes in gene activity. 

Séguin, a research scientist in forest genomics with the Canadian Forest Service, inserted bacterial DNA into spruces that effectively made them immune to spruce budworm, a pest that can chew needles off tens of millions of hectares of trees in a single outbreak. While there is controversy over genetic engineering, some scientists say it could also help fight climate change by creating trees that grow bigger, faster, resist disease and can even turn carbon into a stable white powder that falls to the ground - in other words, trees that would be better at pulling carbon from the atmosphere.

Research leading to almost every Nobel Prize in Medicine awarded since 1901 was dependent on data from animal models.  This fact dramatically demonstrates the important contribution animal models in biomedical research make to both international and American medical progress. In fact, since 1979, every Nobel Prize in Medicine awarded was dependent on data from animal models with the exception of the 1983 Prize awarded to Dr. Barbara McClintock for her work in plant genetics.

Such descriptions of GMOs raises fears about whether gene transfer between species is outside of how evolution operates and therefore unnatural. Research, however, has repeatedly shown the opposite to be true. In May 2015, researchers showed that practically every known species of cassava (sweet potato) contained genes from Agrobacterium, a bacterial species whose genes we have also harnessed to create other GM crops. The genes were inserted over 8,000 years ago and may have helped the tuber evolve into its current, edible form. This phenomenon of genetic transfer during evolution between species, also known as 'horizontal gene transfer' is not restricted to plants.

On June 14, 2013, the Smithsonian Institution in Washington, D.C. opened the high-tech, high-intensity exhibition Genome: Unlocking Life's Code to celebrate the 10th anniversary of researchers producing the first complete human genome sequence - the genetic blueprint of the human body - in April 2003. The exhibition is a collaboration between the Smithsonian's National Museum of Natural History (NMNH) and the National Human Genome Research Institute (NHGRI) of the National Institutes of Health.

This animation depicts the CRISPR-Cas9 method for genome editing - a powerful new technology with many applications in biomedical research, including the potential to treat human genetic disease. Feng Zhang, a leader in the development of this technology, is a faculty member at MIT, an investigator at the McGovern Institute for Brain Research, and a core member of the Broad Institute. Further information can be found on Prof. Zhang's website at http://zlab.mit.edu .

The Human Genome Project (HGP) was one of the great feats of exploration in history - an inward voyage of discovery rather than an outward exploration of the planet or the cosmos; an international research effort to sequence and map all of the genes - together known as the genome - of members of our species, Homo sapiens. Completed in April 2003, the HGP gave us the ability, for the first time, to read nature's complete genetic blueprint for building a human being.

Over the last decade, as DNA-sequencing technology has grown ever faster and cheaper, our understanding of the human genome has increased accordingly. Yet scientists have until recently remained largely ham-fisted when they've tried to directly modify genes in a living cell. Take sickle-cell anemia, for example. A debilitating and often deadly disease, it is caused by a mutation in just one of a patient's three billion DNA base pairs. Even though this genetic error is simple and well studied, researchers are helpless to correct it and halt its devastating effects.

The Rare Disease Foundation is focussed on linking basic science and clinical practice to increase the efficiency of rare disease research. This model is called Translational Care. This model drives patient based, treatment focussed research projects from disease characterization to treatment with greater efficiency. By incorporating research, astute clinician observation and parental knowledge into the various stages of rare disease research we impact the speed of discovery and the way rare conditions are managed.

Normally, male squirrel monkeys can't distinguish between red and green hues-they're what is called color-blind in humans. The South American Saimiri genus lacks a gene that allows color-sensitive cells in the eye, called cones, to differentiate red and green from gray. To these animals, other colors, such as blue, brown and orange, appear faded. But Sam was one of two males in the experimental group of a groundbreaking 2009 ophthalmological study conducted at the Washington National Primate Research Center in Seattle. Husband-and-wife vision researchers Jay and Maureen Neitz injected a viral vector behind the retinas, the part of the eye that responds to color, of Sam and his simian lab partner, Dalton. The virus contained the genetic code in human eyes for red pigment, giving the monkeys an extra class of cone photoreceptor.